Cardiology

Session # 2420T

Diagnostic yield and mutation spectrum of multigene panel testing for hypertrophic cardiomyopathy

  • Hypertrophic cardiomyopathy is a genetically heterogeneous disease with reduced penetrance.
  • Genetic testing is of great utility in identifying pre-symptomatic at-risk individuals.
  • VUS were detected in 46% the tested individuals and the interpretation is challenging.

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